Table 6.

Recommended Surveillance for Individuals with APRT Deficiency

System/ConcernEvaluationFrequency
Renal Measurement of eGFR derived from serum creatinine &/or serum cystatin CEvery 6-12 mos or as clinically indicated
Urine microscopy for assessment of DHA crystalluria 1, 2, 3 if direct DHA measurements not available 4
Renal ultrasound 5Periodically
Other Assess medication compliance.At least annually

eGFR = estimated glomerular filtration rate

1.

Using first morning void urine specimen, if possible

2.

In those receiving pharmacotherapy

3.

Although not optimal, the absence of DHA crystals on urine microscopy can be considered indicative of adequate treatment. A highly significant correlation between 24-hour urinary DHA excretion and DHA crystalluria has been observed [Runolfsdottir et al 2019b].

4.

See Therapies and Assays Under Investigation for information about the UPLC-MS/MS assay for therapeutic monitoring [Thorsteinsdottir et al 2016, Edvardsson et al 2018].

5.

To evaluate for new, asymptomatic kidney stones

From: Adenine Phosphoribosyltransferase Deficiency

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